Canonical Allele Identifier: CA2573055032
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50581541del , CM000684.2:g.50581541del GRCh38
NC_000022.10:g.51019970del , CM000684.1:g.51019970del GRCh37
NC_000022.9:g.49366836del NCBI36
NG_012643.1:g.2130del
NG_029213.1:g.6462del , LRG_855:g.6462del

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.463del (CHKB) MANE Select ENSP00000384400.3:p.Thr155LeufsTer?
ENST00000406938.2:c.463del (CHKB) ENSP00000384400.2:p.Thr155LeufsTer?
ENST00000463053.1:n.612del (CHKB)
ENST00000468532.5:n.340del (CHKB)
ENST00000476289.5:n.736del (CHKB)
ENST00000479003.5:n.1088del (CHKB)
ENST00000481673.5:n.913del (CHKB)
ENST00000484266.5:n.576+711del (CHKB)
ENST00000492556.5:n.1233del (CHKB-CPT1B)
ENST00000492582.5:n.1122del (CHKB)
NM_005198.4:c.463del , LRG_855t1:c.463del (CHKB) NP_005189.2:p.Thr155LeufsTer?
NR_027928.2:n.681del (CHKB-CPT1B)
NM_005198.5:c.463del (CHKB) MANE Select NP_005189.2:p.Thr155LeufsTer?